Associations of FAS gene expression, SHMT1 (rs4925166) polymorphism, and serum MOG autoantibodies level with susceptibility and progression of Multiple Sclerosis

Gamal, Tunis; El-Feky, Mohamed Ali; El Malky, Islam; EL-Amir, Mostafa I.

doi:10.21608/svuijm.2025.416786.2255

Associations of FAS gene expression, SHMT1 (rs4925166) polymorphism, and serum MOG autoantibodies level with susceptibility and progression of Multiple Sclerosis

Document Type : Original research articles

Authors

¹ Department of Medical Microbiology and Immunology, Faculty of Medicine, South Valley University, Qena, Egypt.

² Department of Medical Microbiology and Immunology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.

³ Neurology and Psychology Department, Faculty of Medicine, South Valley University, Qena, Egypt.

10.21608/svuijm.2025.416786.2255

Abstract

Background: Multiple sclerosis (MS) is a chronic inflammatory demyelinating condition of the central nervous system (CNS). The precise cause of MS remains unknown, but it is believed to result from a combination of genetic and environmental factors.
Objectives: To evaluate FAS gene expression, serine hydroxymethyltransferase 1 (SHMT1) gene polymorphism (rs4925166) and serum myelin oligodendrocyte glycoprotein (MOG) autoantibody levels in MS patients and its role in disease progression.
Patients and methods: The study included 49 MS patients and 50 healthy controls. FAS gene expression was evaluated using RT-PCR. The PCR-RFLP technique was used to detect SHMT1 gene polymorphism (rs4925166). Serum MOG autoantibody levels were measured by ELISA.
Results:-The patients’ mean age was 32.49 ± 7.8 years. 69.4% of patients were females. (6.1%) of the patients had a positive family history. According to the Expanded Disability Status Scale (EDSS) 51% of the patients were below 2. The median FAS gene expression was significantly higher in MS cases with an EDSS score less than 2, [1.077 (0.3687-3.735)], compared to those with scores ranging from 2 to 4, [0.5304 (0.122-1.725)], (P = 0.043). Regarding SHMT1 gene polymorphism (rs4925166), The TG genotype was present in all participants. Anti-MOG antibodies were significantly higher in patients versus controls (85.7% versus 0%), (P < 0.001). Significantly elevated anti-MOG antibodies in cases with relapses (82.8024 ± 21.7356 ng/ml) than those in remission (25.9481 ± 19.0899 ng/ml), P <0.001.
Conclusion: Insignificant difference in FAS gene expression between MS patients and healthy controls with lower disability (EDSS less than 2) associated with higher median FAS expression indicating the role of the FAS gene in reducing disease progression. Anti-MOG antibodies were significantly higher during relapse compared to remission, highlighting their potential as a biomarker in disease progression.

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